Varaico: Literature-Extracted Genetic Variants

Gene:SOX5
Variant:p.R547*

SOX5

153 papers

RefSeq Summary

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded p...

Pfam Domains

HMG_boxaa 556–624UCSCHMG (high mobility group) box
HMG_boxaa 556–624UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 5

HGNC Alias Symbols

L-SOX5; MGC35153

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006940.6
p.R547*
c.1639C>T
Surrounding Variants
1 paper
NM_006940.6
p.E545A
c.1634A>C
2 papers
NM_006940.6
p.E539delFs
c.1616_1617delCT
1 paper
NM_006940.6
p.E539fs
c.1615_1616fs
1 paper
NM_006940.6
p.H555Y
c.1663C>T
3 papers
NM_006940.6
p.S538*
c.1613C>G
3 papers
NM_006940.6
p.S538*
c.1613C>A
6 papers
NM_006940.6
p.R558C
c.1672C>T
5 papers
NM_006940.6
p.R558H
c.1673G>A
NM_001261414.3
p.R437H
c.1310G>A
2 papers
NM_006940.6
p.P559L
c.1676C>T
5 papers
NM_006940.6
p.M560V
c.1678A>G
1 paper
NM_006940.6
p.G533Splc
c.1598-1G>A
4 papers
NM_006940.6
p.N561H
c.1681A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."